| Mutation ID |
54 |
| Mutation Consequence |
stop_gained;protein_altering_variant |
| Transcription ID |
ENST00000358835 |
| Start |
111365313:111365314(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6704_6705insCTGAAATCT |
| AA Mutation |
p.Lys2235delinsAsnTerAsnLeu(p.K2235delinsN*NL) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
55 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000358835 |
| Start |
111416281:111416281(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.329+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> REV3L
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358835 |
| Start |
111367780:111367780(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6008G>A |
| AA Mutation |
p.Arg2003Gln(p.R2003Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358835 |
| Start |
111377712:111377712(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1586A>T |
| AA Mutation |
p.Asp529Val(p.D529V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358835 |
| Start |
111373700:111373700(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4655C>T |
| AA Mutation |
p.Ser1552Phe(p.S1552F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358835 |
| Start |
111351692:111351692(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757717451
|
| CDS Mutation |
c.7284G>T |
| AA Mutation |
p.Met2428Ile(p.M2428I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358835 |
| Start |
111367338:111367338(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6450G>T |
| AA Mutation |
p.Glu2150Asp(p.E2150D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358835 |
| Start |
111374774:111374774(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs775715264
|
| CDS Mutation |
c.3581G>A |
| AA Mutation |
p.Arg1194Gln(p.R1194Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358835 |
| Start |
111376480:111376480(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1875G>T |
| AA Mutation |
p.Met625Ile(p.M625I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358835 |
| Start |
111388008:111388008(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.940T>G |
| AA Mutation |
p.Phe314Val(p.F314V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358835 |
| Start |
111357075:111357075(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs760207701
|
| CDS Mutation |
c.7123G>A |
| AA Mutation |
p.Glu2375Lys(p.E2375K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358835 |
| Start |
111375066:111375066(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3289G>A |
| AA Mutation |
p.Glu1097Lys(p.E1097K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358835 |
| Start |
111376497:111376497(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs752852448
|
| CDS Mutation |
c.1858G>A |
| AA Mutation |
p.Glu620Lys(p.E620K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358835 |
| Start |
111392901:111392901(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs751697117
|
| CDS Mutation |
c.637C>T |
| AA Mutation |
p.Arg213Trp(p.R213W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000358835 |
| Start |
111311119:111311119(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.8745A>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000358835 |
| Start |
111307546:111307546(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.9067C>T |
| AA Mutation |
p.Arg3023Ter(p.R3023*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000358835 |
| Start |
111372690:111372690(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5665G>T |
| AA Mutation |
p.Glu1889Ter(p.E1889*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000358835 |
| Start |
111373821:111373821(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4534C>T |
| AA Mutation |
p.Arg1512Ter(p.R1512*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000358835 |
| Start |
111381403:111381403(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1138G>T |
| AA Mutation |
p.Glu380Ter(p.E380*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|